SNP Links for Protein (Select 48255915) - SNP

Links from Protein

Items: 1 to 20 of 267

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Select item 14908561031.

rs1490856103 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:142255248 (GRCh38)
7:141955068 (GRCh37)
Canonical SPDI:: NC_000007.14:142255247:C:T
Gene:: PRSS58 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.142255248C>T, NG_001333.2:g.47788C>T, NT_187562.1:g.217148C>T, NC_000007.13:g.141955068C>T, NW_003571040.1:g.397219C>T, NM_001001317.5:c.243G>A, NM_001001317.4:c.243G>A, NM_001001317.3:c.243G>A

Select item 14820811992.

rs1482081199 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:142255246 (GRCh38)
7:141955066 (GRCh37)
Canonical SPDI:: NC_000007.14:142255245:A:T
Gene:: PRSS58 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.142255246A>T, NG_001333.2:g.47786A>T, NT_187562.1:g.217146A>T, NC_000007.13:g.141955066A>T, NW_003571040.1:g.397217A>T, NM_001001317.5:c.245T>A, NM_001001317.4:c.245T>A, NM_001001317.3:c.245T>A, NP_001001317.1:p.Ile82Asn

Select item 14816658233.

rs1481665823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:142255177 (GRCh38)
7:141954997 (GRCh37)
Canonical SPDI:: NC_000007.14:142255176:A:G
Gene:: PRSS58 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.142255177A>G, NG_001333.2:g.47717A>G, NT_187562.1:g.217077A>G, NC_000007.13:g.141954997A>G, NW_003571040.1:g.397148A>G, NM_001001317.5:c.314T>C, NM_001001317.4:c.314T>C, NM_001001317.3:c.314T>C, NP_001001317.1:p.Ile105Thr

Select item 14794446994.

rs1479444699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:142255663 (GRCh38)
7:141955483 (GRCh37)
Canonical SPDI:: NC_000007.14:142255662:G:A,NC_000007.14:142255662:G:C,NC_000007.14:142255662:G:T
Gene:: PRSS58 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.142255663G>A, NC_000007.14:g.142255663G>C, NC_000007.14:g.142255663G>T, NG_001333.2:g.48203G>A, NG_001333.2:g.48203G>C, NG_001333.2:g.48203G>T, NT_187562.1:g.217563G>A, NT_187562.1:g.217563G>C, NT_187562.1:g.217563G>T, NC_000007.13:g.141955483G>A, NC_000007.13:g.141955483G>C, NC_000007.13:g.141955483G>T, NW_003571040.1:g.397634G>A, NW_003571040.1:g.397634G>C, NW_003571040.1:g.397634G>T, NM_001001317.5:c.51C>T, NM_001001317.5:c.51C>G, NM_001001317.5:c.51C>A, NM_001001317.4:c.51C>T, NM_001001317.4:c.51C>G, NM_001001317.4:c.51C>A, NM_001001317.3:c.51C>T, NM_001001317.3:c.51C>G, NM_001001317.3:c.51C>A

Select item 14793954485.

rs1479395448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:142252540 (GRCh38)
7:141952360 (GRCh37)
Canonical SPDI:: NC_000007.14:142252539:T:C
Gene:: PRSS58 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.142252540T>C, NG_001333.2:g.45081T>C, NT_187562.1:g.214440T>C, NC_000007.13:g.141952360T>C, NW_003571040.1:g.394511T>C, NM_001001317.5:c.508A>G, NM_001001317.4:c.508A>G, NM_001001317.3:c.508A>G, NP_001001317.1:p.Lys170Glu

Select item 14774163676.

rs1477416367 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:142255610 (GRCh38)
7:141955430 (GRCh37)
Canonical SPDI:: NC_000007.14:142255609:T:G
Gene:: PRSS58 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.142255610T>G, NG_001333.2:g.48150T>G, NT_187562.1:g.217510T>G, NC_000007.13:g.141955430T>G, NW_003571040.1:g.397581T>G, NM_001001317.5:c.104A>C, NM_001001317.4:c.104A>C, NM_001001317.3:c.104A>C, NP_001001317.1:p.Lys35Thr

Select item 14770211337.

rs1477021133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:142252480 (GRCh38)
7:141952300 (GRCh37)
Canonical SPDI:: NC_000007.14:142252479:G:C
Gene:: PRSS58 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.142252480G>C, NG_001333.2:g.45021G>C, NT_187562.1:g.214380G>C, NC_000007.13:g.141952300G>C, NW_003571040.1:g.394451G>C, NM_001001317.5:c.568C>G, NM_001001317.4:c.568C>G, NM_001001317.3:c.568C>G, NP_001001317.1:p.Pro190Ala

Select item 14701131008.

rs1470113100 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:142252284 (GRCh38)
7:141952104 (GRCh37)
Canonical SPDI:: NC_000007.14:142252283:A:C,NC_000007.14:142252283:A:G
Gene:: PRSS58 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.142252284A>C, NC_000007.14:g.142252284A>G, NG_001333.2:g.44825A>C, NG_001333.2:g.44825A>G, NT_187562.1:g.214184A>C, NT_187562.1:g.214184A>G, NC_000007.13:g.141952104A>C, NC_000007.13:g.141952104A>G, NW_003571040.1:g.394255A>C, NW_003571040.1:g.394255A>G, NM_001001317.5:c.663T>G, NM_001001317.5:c.663T>C, NM_001001317.4:c.663T>G, NM_001001317.4:c.663T>C, NM_001001317.3:c.663T>G, NM_001001317.3:c.663T>C

Select item 14623503679.

rs1462350367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:142255535 (GRCh38)
7:141955355 (GRCh37)
Canonical SPDI:: NC_000007.14:142255534:G:A,NC_000007.14:142255534:G:T
Gene:: PRSS58 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00006/2 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000007.14:g.142255535G>A, NC_000007.14:g.142255535G>T, NG_001333.2:g.48075G>A, NG_001333.2:g.48075G>T, NT_187562.1:g.217435G>A, NT_187562.1:g.217435G>T, NC_000007.13:g.141955355G>A, NC_000007.13:g.141955355G>T, NW_003571040.1:g.397506G>A, NW_003571040.1:g.397506G>T, NM_001001317.5:c.179C>T, NM_001001317.5:c.179C>A, NM_001001317.4:c.179C>T, NM_001001317.4:c.179C>A, NM_001001317.3:c.179C>T, NM_001001317.3:c.179C>A, NP_001001317.1:p.Pro60Leu, NP_001001317.1:p.Pro60Gln

Select item 146100850510.

rs1461008505 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:142255082 (GRCh38)
7:141954902 (GRCh37)
Canonical SPDI:: NC_000007.14:142255081:T:C
Gene:: PRSS58 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.142255082T>C, NG_001333.2:g.47622T>C, NT_187562.1:g.216982T>C, NC_000007.13:g.141954902T>C, NW_003571040.1:g.397053T>C, NM_001001317.5:c.409A>G, NM_001001317.4:c.409A>G, NM_001001317.3:c.409A>G, NP_001001317.1:p.Thr137Ala

Select item 144726940711.

rs1447269407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:142255600 (GRCh38)
7:141955420 (GRCh37)
Canonical SPDI:: NC_000007.14:142255599:G:T
Gene:: PRSS58 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.142255600G>T, NG_001333.2:g.48140G>T, NT_187562.1:g.217500G>T, NC_000007.13:g.141955420G>T, NW_003571040.1:g.397571G>T, NM_001001317.5:c.114C>A, NM_001001317.4:c.114C>A, NM_001001317.3:c.114C>A, NP_001001317.1:p.Tyr38Ter

Select item 144141538112.

rs1441415381 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:142252319 (GRCh38)
7:141952139 (GRCh37)
Canonical SPDI:: NC_000007.14:142252318:A:T
Gene:: PRSS58 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.142252319A>T, NG_001333.2:g.44860A>T, NT_187562.1:g.214219A>T, NC_000007.13:g.141952139A>T, NW_003571040.1:g.394290A>T, NM_001001317.5:c.628T>A, NM_001001317.4:c.628T>A, NM_001001317.3:c.628T>A, NP_001001317.1:p.Ser210Thr

Select item 144141402013.

rs1441414020 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:142252300 (GRCh38)
7:141952120 (GRCh37)
Canonical SPDI:: NC_000007.14:142252299:A:G
Gene:: PRSS58 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.142252300A>G, NG_001333.2:g.44841A>G, NT_187562.1:g.214200A>G, NC_000007.13:g.141952120A>G, NW_003571040.1:g.394271A>G, NM_001001317.5:c.647T>C, NM_001001317.4:c.647T>C, NM_001001317.3:c.647T>C, NP_001001317.1:p.Val216Ala

Select item 144091136714.

rs1440911367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:142255582 (GRCh38)
7:141955402 (GRCh37)
Canonical SPDI:: NC_000007.14:142255581:G:T
Gene:: PRSS58 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.142255582G>T, NG_001333.2:g.48122G>T, NT_187562.1:g.217482G>T, NC_000007.13:g.141955402G>T, NW_003571040.1:g.397553G>T, NM_001001317.5:c.132C>A, NM_001001317.4:c.132C>A, NM_001001317.3:c.132C>A

Select item 142982039815.

rs1429820398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:142252294 (GRCh38)
7:141952114 (GRCh37)
Canonical SPDI:: NC_000007.14:142252293:C:G
Gene:: PRSS58 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.142252294C>G, NG_001333.2:g.44835C>G, NT_187562.1:g.214194C>G, NC_000007.13:g.141952114C>G, NW_003571040.1:g.394265C>G, NM_001001317.5:c.653G>C, NM_001001317.4:c.653G>C, NM_001001317.3:c.653G>C, NP_001001317.1:p.Arg218Thr

Select item 142824090516.

rs1428240905 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTTTT [Show Flanks]
Chromosome:: 7:142255206 (GRCh38)
7:141955027 (GRCh37)
Canonical SPDI:: NC_000007.14:142255206::GTTTT
Gene:: PRSS58 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.142255206_142255207insGTTTT, NG_001333.2:g.47746_47747insGTTTT, NT_187562.1:g.217106_217107insGTTTT, NC_000007.13:g.141955026_141955027insGTTTT, NW_003571040.1:g.397177_397178insGTTTT, NM_001001317.5:c.284_285insAAAAC, NM_001001317.4:c.284_285insAAAAC, NM_001001317.3:c.284_285insAAAAC, NP_001001317.1:p.Thr96fs

Select item 142754789917.

rs1427547899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:142255219 (GRCh38)
7:141955039 (GRCh37)
Canonical SPDI:: NC_000007.14:142255218:G:A
Gene:: PRSS58 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.142255219G>A, NG_001333.2:g.47759G>A, NT_187562.1:g.217119G>A, NC_000007.13:g.141955039G>A, NW_003571040.1:g.397190G>A, NM_001001317.5:c.272C>T, NM_001001317.4:c.272C>T, NM_001001317.3:c.272C>T, NP_001001317.1:p.Pro91Leu

Select item 142595416818.

rs1425954168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:142252283 (GRCh38)
7:141952103 (GRCh37)
Canonical SPDI:: NC_000007.14:142252282:C:G
Gene:: PRSS58 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000007.14:g.142252283C>G, NG_001333.2:g.44824C>G, NT_187562.1:g.214183C>G, NC_000007.13:g.141952103C>G, NW_003571040.1:g.394254C>G, NM_001001317.5:c.664G>C, NM_001001317.4:c.664G>C, NM_001001317.3:c.664G>C, NP_001001317.1:p.Gly222Arg

Select item 142167314119.

rs1421673141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:142255093 (GRCh38)
7:141954913 (GRCh37)
Canonical SPDI:: NC_000007.14:142255092:C:A,NC_000007.14:142255092:C:T
Gene:: PRSS58 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.142255093C>A, NC_000007.14:g.142255093C>T, NG_001333.2:g.47633C>A, NG_001333.2:g.47633C>T, NT_187562.1:g.216993C>A, NT_187562.1:g.216993C>T, NC_000007.13:g.141954913C>A, NC_000007.13:g.141954913C>T, NW_003571040.1:g.397064C>A, NW_003571040.1:g.397064C>T, NM_001001317.5:c.398G>T, NM_001001317.5:c.398G>A, NM_001001317.4:c.398G>T, NM_001001317.4:c.398G>A, NM_001001317.3:c.398G>T, NM_001001317.3:c.398G>A, NP_001001317.1:p.Cys133Phe, NP_001001317.1:p.Cys133Tyr

Select item 141644241420.

rs1416442414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:142252287 (GRCh38)
7:141952107 (GRCh37)
Canonical SPDI:: NC_000007.14:142252286:A:G
Gene:: PRSS58 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.142252287A>G, NG_001333.2:g.44828A>G, NT_187562.1:g.214187A>G, NC_000007.13:g.141952107A>G, NW_003571040.1:g.394258A>G, NM_001001317.5:c.660T>C, NM_001001317.4:c.660T>C, NM_001001317.3:c.660T>C

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